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LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud, Anne Sophie; Rudinger-Thirion, Joëlle; Frugier, Magali; Riley, Lisa G; Bidet, Maud; Akloul, Linda; Simpson, Andrea; Gilot, David; Christodoulou, John; Ravel, Célia; Sinclair, Andrew H; Belaud-Rotureau, Marc-Antoine; Tucker, Elena J; Jaillard, Sylvie.
Afiliação
  • Neyroud AS; CHU Rennes, Service de Biologie de la Reproduction-CECOS, F-35033, Rennes, France.
  • Rudinger-Thirion J; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail)-UMR_S 1085, F-35000, Rennes, France.
  • Frugier M; Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France.
  • Riley LG; Université de Strasbourg, Architecture et Réactivité de l'ARN, CNRS, IBMC, Strasbourg, France.
  • Bidet M; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and The Children's Medical Research Institute, Sydney, NSW, Australia.
  • Akloul L; Specialty of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
  • Simpson A; Clinique Mutualiste La Sagesse, Service of AMP, 35000, Rennes, France.
  • Gilot D; CHU Rennes, Service de Génétique Clinique, CLAD Ouest, F-35033, Rennes, France.
  • Christodoulou J; School of Allied Health, College of Science, Health and Engineering, La Trobe University, Bundoora, VIC, Australia.
  • Ravel C; College of Health and Human Services, Charles Darwin University, Darwin, NT, Australia.
  • Sinclair AH; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France.
  • Belaud-Rotureau MA; INSERM U1242, COSS, Université Rennes 1, F-35032, Rennes, France.
  • Tucker EJ; Specialty of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
  • Jaillard S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.
Eur J Hum Genet ; 31(4): 453-460, 2023 04.
Article em En | MEDLINE | ID: mdl-36450801
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Surdez / Aminoacil-tRNA Sintetases / Perda Auditiva / Perda Auditiva Neurossensorial Tipo de estudo: Screening_studies Limite: Female / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Insuficiência Ovariana Primária / Surdez / Aminoacil-tRNA Sintetases / Perda Auditiva / Perda Auditiva Neurossensorial Tipo de estudo: Screening_studies Limite: Female / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França